National Human Genome Research Institute

National Institutes of Health U.S. Department of Health and Human Services

Polydactyly Research Study

Frequently Asked Questions About the Polydactyly Research Study

What is this study about?

We invite you to join a research study of polydactyly at the National Institutes of Health (NIH). We hope to learn more about genes that play a role in limb development in this study.

Why should I join the study? Will I benefit?

Cooperation between patients and researchers has been vital to the progress that has been made in the study of the human genome.

People join research studies for many reasons. Three common reasons include:

1. Altruism. This simply means "a regard for others." For example, why do people donate blood? Usually, the donation doesn't help anyone that the donor knows, but rather a stranger in need. For many people, it feels good to help others, and that is reason enough to donate. The same is true for a research study. There may be no direct benefit to you, but we know that polydactyly is a trait that can occur by itself or as a feature of some genetic syndromes. In joining this study, you may help us learn about the genetic causes of polydactyly. This could help individuals with such syndromes, their parents, and their doctors.
2. Learning. Joining a research study is a chance to talk to medical professionals with a special interest in polydactyly and a number of polydactyly syndromes. There is a lot of time to ask questions, to learn "what's new" and to better understand how polydactyly is inherited.
3. Advice. People join research studies to seek medical advice from doctors with special expertise and interest in their disease. This can range from confirmation of a diagnosis to guidance on a new problem. It is important to remember that doctors involved in research (such as those at NIH) work with, but cannot replace, your regular doctors.

What we are trying to learn with the study?

The goal of this study is to learn more about the genes that help form digits during development.

What are we NOT trying to do?

1. We are NOT testing any new medicine or procedure to treat or cure polydactyly or any syndromes that include polydactyly.
2. At the NIH, we are interested in research. Although we are happy to provide advice for people enrolled in our study, we are not able to take over the long-term care of a person with polydactyly.

What is the approach of the study?

We look in DNA samples from participants to see if we can find the gene changes that cause the trait we are interested in, such as polydactyly.

What is involved in the study?

We will first see if you are eligible to join our study. There are two parts to our study: a laboratory part that involves studying your blood, and a clinical part with an evaluation at NIH in addition to the laboratory part. We will decide on a case-by-case basis if we will invite you to come to the NIH or if we will have you begin in the laboratory part. We are not able to ask everyone to travel to the NIH.

If you are in the laboratory part, we will ask that you send us a blood sample. We will help to coordinate getting the blood sample from your doctor and shipping it to us.

Both parts of the study include an informed consent discussion where a member of the research team will talk with you about the risks and benefits of the study and confirm that you are willing to join the study.

What happens if I visit the NIH?

If we do invite you to the NIH, we will help arrange travel for you (and some family members, in some cases) for a visit to the NIH in Bethesda, Maryland. In most cases, we can pay for all or some of your travel expenses.

At the NIH, you will have an informed consent discussion to learn the risks and benefits of the study and confirm that you are willing to join the study. You will meet with a geneticist who will ask about your medical and family history and do a physical exam (like in any doctor's office). In addition, we will design a set of evaluations based on your needs and concerns and on our research interests. We will explain the need for those studies to you. They may include imaging studies, like X-rays, and having blood drawn.

There will be plenty of time to discuss the genetics and inheritance of polydactyly or an associated syndrome and to answer your questions. We can help you find doctors near you for follow-up. We will send a letter summarizing your visit to you.

What about my privacy?

We take privacy and confidentiality very seriously. Your medical information will be stored in a password-protected database and in a locked filing cabinet. Although we may share medical information with our colleagues, your name will not be used. Instead a code will be used that is unrelated to your name. The "key" to the code will be stored in a locked drawer in the office of the principal investigator or in a secure password-protected database.

What is the cost of the study?

The visit and all testing are free and there is no cost to you, your family, or your insurance company for this study.

What about travel?

In most cases, we will pay for all or some of your travel and parking expenses. This may include your transportation to the NIH (plane, car, train, etc), hotel, meals and expenses. Note that we may not be able to pay all of your travel expenses.

Will I get paid for joining the study?

No, participants in the study do not receive any compensation other than some travel and lodging expenses. There may be no direct benefit to you but we hope the results from the study will eventually benefit other families with polydactyly.

What are other resources to find out information about genetics and support groups?